Hirschsprung’s Disease

What is Hirschsprung’s disease?
irschsprung’s disease is a disease of the large intestine (colon). Stool is normally pushed through the colon by muscles. These muscles are controlled by special nerve cells called ganglion cells. Children with Hirschsprung’s disease are born without ganglion cells in the last part of the colon (rectum). In most cases, only the rectum is affected, but in some cases more of the colon, and even the entire colon, may be affected. Without these ganglion cells, the muscles in that part of the colon cannot push the stool out, which then builds up. Hirschsprung’s disease will have a narrow colon where the ganglion cells are missing. The diagnosis of Hirschsprung’s disease is made by rectal biopsy, but the enema X-ray may have a role in examining the length the affected colon.

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Manometry
The doctor inflates a small balloon in the rectum. Ano-rectal manometry measures pressures of the anal sphincter muscles and how well a person feels different sensations of fullness in the rectum. In children who have Hirschsprung’s disease the muscles in the rectum do not relax normally. During the test the patient is asked to squeeze, relax, and push. The anal sphincter muscle pressures are measured during each activity. To squeeze, the person tightens the sphincter muscles as if trying to prevent anything from coming out. To push, the person strains down as if trying to have a bowel movement. This test is usually done in cooperative children and adults.

How common is Hirschsprung’s disease?
Hirschsprung’s disease occurs about once in every 5,000 babies born. It is slightly more common in boys than in girls.

Biopsy
This is the most accurate test for Hirschsprung’s disease. The doctor takes a very small piece of the rectum to look at under the microscope. Children with Hirschsprung’s disease will not have any ganglion cells in the sample taken.

What are the symptoms of Hirschsprung’s disease?
Symptoms of Hirschsprung’s disease usually show up in very young children but can sometimes show up in older children or teenagers. Most babies with Hirschsprung’s disease do not pass stool on the first or second day of life. After that, almost all babies with Hirschsprung’s disease are constipated and have difficulty passing stool. The children may vomit and their tummy swells up because they cannot pass stool easily. Some babies have diarrhea instead of constipation. Children and teenagers with Hirschsprung’s disease usually experience constipation their entire life. Normal growth and development may occur more slowly in some children.

How is Hirschsprung’s disease treated?
Hirschsprung’s disease is treated with surgery. Surgery is done to remove that part of the colon that lacks the ganglion cells and then to connect the healthy colon above this to the anus. The operation can be done in two stages. In the first stage the surgeon separates the healthy colon from the affected colon. Then the healthy colon is brought out to the skin as a colostomy (opening of the colon to the abdomen) which then empties into a special bag that the parents can manage. Several months later the surgeon removes the affected colon and takes the healthy colon from the colostomy and connects this to the anus. In some babies the surgery can be done as a single operation without a colostomy. This can only be done safely if the baby is healthy and the colon is not full of stool. This operation can be done through the anus so that the baby does not require any incision on the front of the abdomen.

How is Hirschsprung’s disease diagnosed?
There are three tests that may be done to find out if a child has Hirschsprung’s disease: q Contrast enema q manometry q biopsy

Contrast enema X-ray
A contrast enema is an X-ray of the abdomen taken after the doctor puts a liquid such as barium through the anus into the colon. The contrast makes the colon show up better on X-ray. The test is most useful in newborns when the baby cannot push the stool out and an obstruction to the lower end of the colon is suspected. Children with

What can you expect after surgery?
Initially after surgery the stools may be loose, but over the longer term constipation is more likely to be a problem. With constipation, it is recommended that your child have a diet high in fiber and fluid. You may wish to speak with a dietician to help you provide high fiber food choices for your
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It is very important that you consult your doctor about your specific condition. although some may take longer than others. PA 19031 215-233-0808 • Fax: 215-233-3918 . This condition seems to be most common in the first few years of life and rarely occurs beyond the age of six.org IMPORTANT REMINDER: This information from the North American Society for Pediatric Gastroenterology. Over the long term children do well.child. Some children require medications (such as laxatives) to manage the constipation. Even after surgery for Hirschsprung’s disease there is risk of developing a condition called enterocolitis. HEPATOLOGY AND NUTRITION NASPGHAN • PO Box 6 • Flourtown.naspghan. Most children will toilet train normally. Hepatology and Nutrition (NASPGHAN) is intended only to provide general information and not as a definitive basis for diagnosis or treatment in any particular case. This is a serious infection of the colon where the children can be very sick with severe diarrhea. SPECIFIC INSTRUCTIONS: NORTH AMERICAN SOCIETY FOR PEDIATRIC GASTROENTEROLOGY. For more information or to locate a pediatric gastroenterologist in your area please visit our website at: www. They often require intravenous fluids and antibiotics.